rs2240885
This variant is located in the SLX4 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
triglyceride measurement
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.02
p 8.0e-13
N 558,637
Major Consortium StudyLarge GWAS
multi-ancestry
forced expiratory volume
Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele G
OR 0.01
p 2.0e-11
N 373,397
Large GWAS
European
type 2 diabetes mellitus
Spracklen CN et al. “Identification of type 2 diabetes loci in 433,540 East Asian individuals.” Nature 582(7811):240-245 (2020)
Allele A
OR 1.04
p 3.0e-9
N 433,540
Large GWAS
East Asian
preserved ratio impaired spirometry
Higbee DH et al. “Genome-wide association study of preserved ratio impaired spirometry (PRISm).” The European Respiratory Journal 63(1) (2024)
Allele G
OR 0.99
p 6.0e-9
N 289,782
Large GWAS
European
high density lipoprotein cholesterol measurement
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.02
p 3.0e-11
N 404,121
Major Consortium StudyLarge GWAS
European
▶ClinVar annotation
Benign★☆☆☆
1 submitterAbout SLX4
This gene encodes a protein that functions as an assembly component of multiple structure-specific endonucleases. These endonuclease complexes are required for repair of specific types of DNA lesions and critical for cellular responses to replication fork failure. Mutations in this gene were found in patients with Fanconi anemia. [provided by RefSeq, Sep 2016]
View all SLX4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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